title: Haplotypes of the IL-1 gene cluster are associated with gastroesophageal reflux disease and Barrett's esophagus.
abstract: OBJECTIVE
  Gastroesophageal reflux (GERD) is a one of the major public health problem that can lead to reflux esophagitis (RE), Barrett's esophagus (BE), and esophageal adenocarcinoma (EAC). The aim of our study was to determine the impact of IL-1 gene polymorphisms on the development of GERD, RE and BE.
  
  
  METHODS
  Three hundred and thirty-three Czech patients with gastroesophageal reflux and 165 healthy controls were included in this case-control study. Four polymorphisms in the genes of the IL-1 cluster [IL-1A(-889C/T), IL-1B(-511C/T), IL-1B(+3953C/T), and IL-1RN(VNTR)] were analyzed.
  
  
  RESULTS
  Significant differences were found in IL-1RN 1/2 genotype between patients with GERD/RE and controls and in IL-1B+3953 T allele between patients with BE and healthy subjects. In addition, complex analysis revealed differences in IL-1 haplotype frequencies between the groups. Specifically, the haplotype TCCL was significantly more frequent (p = 0.016) in GERD patients than in controls and the haplotype CCCL more frequent (p = 0.008) in RE patients than in controls. However, in patients with BE, frequency of haplotype TCTL was lower (p = 0.05) and haplotypes CTCL and TCCL were higher (p = 0.03 and p = 0.02) in comparison with the controls.
  
  
  CONCLUSIONS
  Our results suggest that IL-1 haplotypes may be associated with susceptibility to GERD, RE and BE.
authors.affiliation: Department of Pathophysiology, Medical Faculty, Masaryk University Brno, Czech Republic. holla@med.muni.cz
authors.forename: Lydie
authors.initials: L
authors.lastname: Izakovicova Holla
authors.forename: Petra
authors.initials: P
authors.lastname: Borilova Linhartova
authors.forename: Barbara
authors.initials: B
authors.lastname: Hrdlickova
authors.forename: Filip
authors.initials: F
authors.lastname: Marek
authors.forename: Jiri
authors.initials: J
authors.lastname: Dolina
authors.forename: Vladimir
authors.initials: V
authors.lastname: Rihak
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Kala
mesh_terms: D000328:Adult; D000818:Animals; D001471:Barrett Esophagus / Q000235:genetics* / Q000276:immunology; D016022:Case-Control Studies; D018153:Czech Republic; D005260:Female; D005764:Gastroesophageal Reflux / Q000235:genetics* / Q000276:immunology; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000276:immunology
chemical_list: D007375:Interleukin-1
keywords: BE; Barrett’s esophagus; CI; DNA; DU; EAC; EC; EE; GAC; GERD; GIQLI; GU; HWE; Hardy–Weinberg equilibrium; IL-1; LD; LES; NERD; OR; PCR; RE; RFLP; SNP; VNTR; adenocarcinoma of the esophagus; confidence intervals; deoxyribonucleic acid; duodenal ulcer; erosive esophagitis; esophageal cancer; gastric adenocarcinoma; gastric ulcer; gastroesophageal reflux disease; gastrointestinal quality of life index; interleukin-1; linkage disequilibrium; lower esophageal sphincter; non-erosive reflux disease; odds ratio; polymerase chain reaction; reflux esophagitis; restriction fragment length polymorphism; single nucleotide polymorphism; variable number tandem repeat